Genetic analyses of diverse populations improves discovery for complex traits.

ABSTRACT: Genome-wide association studies (GWAS) have laid the foundation for investigations into the biology of complex traits, drug development and clinical guidelines. However, the majority of discovery efforts are based on data from populations of European ancestry^1-3. In light of the differential genetic architecture that is known to exist between populations, bias in representation can exacerbate existing disease and healthcare disparities. Critical variants may be missed if they have a low frequency or are completely absent in European populations, especially as the field shifts its attention towards rare variants, which are more likely to be population-specific^4-10. Additionally, effect sizes and their derived risk prediction scores derived in one population may not acc

SUBMITTER: Wojcik GL 

PROVIDER: S-EPMC6785182 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature